Search Results - "Whyte, Michael P"

Hypophosphatasia: Enzyme Replacement Therapy Brings New Opportunities and New Challenges by Whyte, Michael P

“…ABSTRACT Hypophosphatasia (HPP) is caused by loss‐of‐function mutation(s) of the gene that encodes the tissue‐nonspecific isoenzyme of alkaline phosphatase…”
Get full text

Physiological role of alkaline phosphatase explored in hypophosphatasia by Whyte, Michael P.

“…Hypophosphatasia (HPP) is the instructive rickets or osteomalacia caused by loss‐of‐function mutation(s) within TNSALP, the gene that encodes the “tissue…”
Get full text

Skeletal and extraskeletal disorders of biomineralization by Collins, Michael T., Marcucci, Gemma, Anders, Hans-Joachim, Beltrami, Giovanni, Cauley, Jane A., Ebeling, Peter R., Kumar, Rajiv, Linglart, Agnès, Sangiorgi, Luca, Towler, Dwight A., Weston, Ria, Whyte, Michael. P., Brandi, Maria Luisa, Clarke, Bart, Thakker, Rajesh V.

“…The physiological process of biomineralization is complex and deviation from it leads to a variety of diseases. Progress in the past 10 years has enhanced…”
Get full text

Hypophosphatasia: Natural history study of 101 affected children investigated at one research center by Whyte, Michael P., MD, Wenkert, Deborah, MD, Zhang, Fan, MD

“…Abstract Hypophosphatasia (HPP) is the inborn-error-of-metabolism that features deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase…”
Get full text

Atypical Subtrochanteric and Diaphyseal Femoral Fractures: Second Report of a Task Force of the American Society for Bone and Mineral Research by Shane, Elizabeth, Burr, David, Abrahamsen, Bo, Adler, Robert A, Brown, Thomas D, Cheung, Angela M, Cosman, Felicia, Curtis, Jeffrey R, Dell, Richard, Dempster, David W, Ebeling, Peter R, Einhorn, Thomas A, Genant, Harry K, Geusens, Piet, Klaushofer, Klaus, Lane, Joseph M, McKiernan, Fergus, McKinney, Ross, Ng, Alvin, Nieves, Jeri, O'Keefe, Regis, Papapoulos, Socrates, Howe, Tet Sen, van der Meulen, Marjolein CH, Weinstein, Robert S, Whyte, Michael P

“…ABSTRACT Bisphosphonates (BPs) and denosumab reduce the risk of spine and nonspine fractures. Atypical femur fractures (AFFs) located in the subtrochanteric…”
Get full text

Atypical Femoral Fractures, Bisphosphonates, and Adult Hypophosphatasia by Whyte, Michael P

“…Lateral subtrochanteric femoral pseudofractures occurring in adults with osteomalacia from hypophosphatasia and X‐linked hypophosphatemia support the…”
Get full text

Validation of a Novel Scoring System for Changes in Skeletal Manifestations of Hypophosphatasia in Newborns, Infants, and Children: The Radiographic Global Impression of Change Scale by Whyte, Michael P, Fujita, Kenji P, Moseley, Scott, Thompson, David D, McAlister, William H

“…ABSTRACT Hypophosphatasia (HPP) is the heritable metabolic disease characterized by impaired skeletal mineralization due to low activity of the…”
Get full text

“Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia by Sutton, Roger AL, Mumm, Steven, Coburn, Stephen P, Ericson, Karen L, Whyte, Michael P

“…We report a 55‐year‐old woman who suffered atypical subtrochanteric femoral fractures (ASFFs) after 4 years of exposure to alendronate and then zolendronate…”
Get full text

Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment by Whyte, Michael P.

“…Key Points Hypophosphatasia is the autosomal dominant or autosomal recessive inborn error of metabolism with an extraordinary range of severity caused by…”
Get full text

Hypophosphatasia: An overview For 2017 by Whyte, Michael P

“…Abstract Hypophosphatasia (HPP) is the inborn-error-of-metabolism that features low serum alkaline phosphatase (ALP) activity (hypophosphatasemia) caused by…”
Get full text

AP2σ Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity by Gorvin, Caroline M., Rogers, Angela, Hastoy, Benoit, Tarasov, Andrei I., Frost, Morten, Sposini, Silvia, Inoue, Asuka, Whyte, Michael P., Rorsman, Patrik, Hanyaloglu, Aylin C., Breitwieser, Gerda E., Thakker, Rajesh V.

“…Spatial control of G-protein-coupled receptor (GPCR) signaling, which is used by cells to translate complex information into distinct downstream responses, is…”
Get full text

Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9 by Phatarakijnirund, Voraluck, Mumm, Steven, McAlister, William H, Novack, Deborah V, Wenkert, Deborah, Clements, Karen L, Whyte, Michael P

“…Abstract Congenital insensitivity to pain (CIP) comprises the rare heritable disorders without peripheral neuropathy that feature inability to feel pain…”
Get full text

Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study by Whyte, Michael P., Leung, Edward, Wilcox, William R., Liese, Johannes, Argente, Jesús, Martos-Moreno, Gabriel Á., Reeves, Amy, Fujita, Kenji P., Moseley, Scott, Hofmann, Christine, Beck, Michael, DiMeglio, Linda, Wuh-Liang Hwu, Paul, Simm, Peter, Simmons, Jill, Steelman, Joel, Steiner, Robert D., Superti-Furga, Andrea

“…To report clinical characteristics and medical history data obtained retrospectively for a large cohort of pediatric patients with perinatal and infantile…”
Get full text

Calcific Periarthritis as the Only Clinical Manifestation of Hypophosphatasia in Middle‐Aged Sisters by Guañabens, Núria, Mumm, Steven, Möller, Ingrid, González‐Roca, Eva, Peris, Pilar, Demertzis, Jennifer L, Whyte, Michael P

“…ABSTRACT Hypophosphatasia (HPP) is the inborn error of metabolism that features low serum alkaline phosphatase (ALP) activity caused by loss‐of‐function…”
Get full text

Author Correction: Skeletal and extraskeletal disorders of biomineralization by Collins, Michael T., Marcucci, Gemma, Anders, Hans-Joachim, Beltrami, Giovanni, Cauley, Jane A., Ebeling, Peter R., Kumar, Rajiv, Linglart, Agnès, Sangiorgi, Luca, Towler, Dwight A., Weston, Ria, Whyte, Michael. P., Brandi, Maria Luisa, Clarke, Bart, Thakker, Rajesh V.

Get full text

Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review) by Wenkert, Deborah, McAlister, William H, Coburn, Stephen P, Zerega, Janice A, Ryan, Lawrence M, Ericson, Karen L, Hersh, Joseph H, Mumm, Steven, Whyte, Michael P

“…Hypophosphatasia (HPP) is caused by deactivating mutation(s) within the gene that encodes the tissue‐nonspecific isoenzyme of alkaline phosphatase (TNSALP)…”
Get full text

Enzyme Replacement Therapy for Murine Hypophosphatasia by Millán, José Luis, Narisawa, Sonoko, Lemire, Isabelle, Loisel, Thomas P, Boileau, Guy, Leonard, Pierre, Gramatikova, Svetlana, Terkeltaub, Robert, Camacho, Nancy Pleshko, McKee, Marc D, Crine, Philippe, Whyte, Michael P

“…Introduction: Hypophosphatasia (HPP) is the inborn error of metabolism that features rickets or osteomalacia caused by loss‐of‐function mutation(s) within the…”
Get full text

Carbonic anhydrase II deficiency by Whyte, Michael P.

“…Carbonic anhydrase II deficiency (OMIM # 259730), initially called “osteopetrosis with renal tubular acidosis and cerebral calcification syndrome”, reveals an…”
Get full text

Osteopetrosis: Discovery and early history of “marble bone disease” by Whyte, Michael P.

“…Discovery in 1904 of the disorder initially called “marble bones”, then in 1926 more appropriately referred to as “osteopetrosis”, is attributed to Heinrich E…”
Get full text

Enzyme replacement prevents enamel defects in hypophosphatasia mice by Yadav, Manisha C, de Oliveira, Rodrigo Cardoso, Foster, Brian L, Fong, Hanson, Cory, Esther, Narisawa, Sonoko, Sah, Robert L, Somerman, Martha, Whyte, Michael P, Millán, José Luis

“…Hypophosphatasia (HPP) is the inborn error of metabolism characterized by deficiency of alkaline phosphatase activity, leading to rickets or osteomalacia and…”
Get full text